Incidental Mutation 'R1265:Alg2'
ID 151140
Institutional Source Beutler Lab
Gene Symbol Alg2
Ensembl Gene ENSMUSG00000039740
Gene Name ALG2 alpha-1,3/1,6-mannosyltransferase
Synonyms CDGIi, 1110018A23Rik, ALPG2, 1300013N08Rik
MMRRC Submission 039332-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1265 (G1)
Quality Score 144
Status Not validated
Chromosome 4
Chromosomal Location 47469833-47474367 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 47474289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000044148] [ENSMUST00000065678] [ENSMUST00000125622] [ENSMUST00000137461]
AlphaFold Q9DBE8
Predicted Effect probably benign
Transcript: ENSMUST00000044148
SMART Domains Protein: ENSMUSP00000043580
Gene: ENSMUSG00000039740

DomainStartEndE-ValueType
Pfam:Glyco_transf_4 21 208 1.1e-10 PFAM
Pfam:Glyco_trans_4_4 27 189 1.3e-12 PFAM
Pfam:Glycos_transf_1 211 393 4.1e-37 PFAM
Pfam:Glyco_trans_1_4 224 379 1.9e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000065678
SMART Domains Protein: ENSMUSP00000067681
Gene: ENSMUSG00000053317

DomainStartEndE-ValueType
Pfam:Sec61_beta 51 91 1.5e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125622
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136912
Predicted Effect probably benign
Transcript: ENSMUST00000137461
Predicted Effect probably benign
Transcript: ENSMUST00000143104
SMART Domains Protein: ENSMUSP00000121934
Gene: ENSMUSG00000039740

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
Pfam:Glycos_transf_1 84 177 6.7e-11 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
PHENOTYPE: Homozygous mice die prior to genotyping age. Female heterozygous mice exhibit decreased skin fibroblast proliferation rates. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 T C 2: 22,836,734 (GRCm39) D316G possibly damaging Het
Aebp1 T C 11: 5,821,740 (GRCm39) V713A probably damaging Het
Ank1 T A 8: 23,607,053 (GRCm39) V1273E possibly damaging Het
Cntnap5a A G 1: 116,356,248 (GRCm39) T760A possibly damaging Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Igf2r A T 17: 12,913,011 (GRCm39) V1779E probably damaging Het
Lrp1b C T 2: 41,366,666 (GRCm39) V537M probably damaging Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Ly6h T A 15: 75,438,032 (GRCm39) M27L probably benign Het
Nphs2 A G 1: 156,146,317 (GRCm39) T173A probably damaging Het
Nsd3 T C 8: 26,172,578 (GRCm39) V779A probably benign Het
Or3a1d T C 11: 74,237,766 (GRCm39) I95V probably benign Het
Pdzd7 T C 19: 45,029,124 (GRCm39) D82G possibly damaging Het
Pkp2 A G 16: 16,043,168 (GRCm39) N76S probably benign Het
Ppip5k2 A G 1: 97,647,625 (GRCm39) S976P probably benign Het
Slc38a3 A G 9: 107,529,185 (GRCm39) F489S probably damaging Het
Sox11 T C 12: 27,391,735 (GRCm39) T225A probably benign Het
Tbx10 T C 19: 4,046,625 (GRCm39) F35S probably damaging Het
Tcf4 T C 18: 69,776,003 (GRCm39) M40T possibly damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Thsd7a T C 6: 12,317,418 (GRCm39) N1630S probably damaging Het
Urb2 A G 8: 124,751,892 (GRCm39) D75G probably damaging Het
Other mutations in Alg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Alg2 APN 4 47,472,329 (GRCm39) missense probably damaging 0.99
IGL02314:Alg2 APN 4 47,472,143 (GRCm39) nonsense probably null
IGL02321:Alg2 APN 4 47,474,249 (GRCm39) missense probably benign 0.01
IGL02697:Alg2 APN 4 47,471,772 (GRCm39) missense probably damaging 0.99
PIT4434001:Alg2 UTSW 4 47,474,076 (GRCm39) missense probably benign 0.13
R1861:Alg2 UTSW 4 47,471,670 (GRCm39) missense probably benign
R3147:Alg2 UTSW 4 47,472,259 (GRCm39) missense probably damaging 0.99
R3148:Alg2 UTSW 4 47,472,259 (GRCm39) missense probably damaging 0.99
R4828:Alg2 UTSW 4 47,471,563 (GRCm39) missense probably benign 0.31
R4937:Alg2 UTSW 4 47,473,974 (GRCm39) missense probably benign 0.01
R5529:Alg2 UTSW 4 47,472,101 (GRCm39) missense probably damaging 0.99
R6523:Alg2 UTSW 4 47,472,071 (GRCm39) missense possibly damaging 0.50
R7007:Alg2 UTSW 4 47,471,881 (GRCm39) missense probably benign 0.31
R7990:Alg2 UTSW 4 47,472,308 (GRCm39) missense probably damaging 1.00
R8361:Alg2 UTSW 4 47,471,848 (GRCm39) missense probably damaging 1.00
R8678:Alg2 UTSW 4 47,474,108 (GRCm39) missense probably damaging 1.00
R8885:Alg2 UTSW 4 47,474,159 (GRCm39) missense probably benign 0.00
R9248:Alg2 UTSW 4 47,474,001 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCGGTCCATATCTTCACATCACAGC -3'
(R):5'- TGCCTGTAAAGATTACGCCGACAAC -3'

Sequencing Primer
(F):5'- ATCACAGCCGTACTCCTGC -3'
(R):5'- CTTTGGACAGGTCCACATGAG -3'
Posted On 2014-01-29